DHX16 Gene (Protein Coding)

DEAH-Box Helicase 16

GC06M030653
GIFtS:
40
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this fami... See more...

Aliases for DHX16 Gene

Aliases for DHX16 Gene

  • DEAH-Box Helicase 16 2 3 5
  • DBP2 2 3 4
  • Pre-MRNA-Splicing Factor ATP-Dependent RNA Helicase DHX16 3 4
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 16 2 3
  • DEAH (Asp-Glu-Ala-His) Box Polypeptide 16 2 3
  • ATP-Dependent RNA Helicase #3 3 4
  • DEAH-Box Protein 16 3 4
  • DDX16 3 4
  • PRPF2 2 3
  • Prp2 2 3
  • Putative Pre-MRNA-Splicing Factor ATP-Dependent RNA Helicase DHX16 3
  • DEAD/H Box 16 3
  • RNA Helicase 3
  • EC 3.6.4.13 4
  • KIAA0577 4
  • EC 3.6.1 51
  • PRO2014 3
  • NMOAS 3
  • DHX16 5
  • PRP8 3
  • PRP2 4

External Ids for DHX16 Gene

Previous HGNC Symbols for DHX16 Gene

  • DDX16

Previous GeneCards Identifiers for DHX16 Gene

  • GC06M030391
  • GC06M030727
  • GC06M030728
  • GC06M030620

Summaries for DHX16 Gene

Entrez Gene Summary for DHX16 Gene

  • DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]

GeneCards Summary for DHX16 Gene

DHX16 (DEAH-Box Helicase 16) is a Protein Coding gene. Diseases associated with DHX16 include Neuromuscular Disease And Ocular Or Auditory Anomalies With Or Without Seizures and Corpus Callosum, Agenesis Of. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DHX8.

UniProtKB/Swiss-Prot Summary for DHX16 Gene

  • Required for pre-mRNA splicing as component of the spliceosome (PubMed:20423332, PubMed:20841358, PubMed:25296192, PubMed:29360106). Contributes to pre-mRNA splicing after spliceosome formation and prior to the first transesterification reaction.

Gene Wiki entry for DHX16 Gene

Additional gene information for DHX16 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHX16 Gene

Genomics for DHX16 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DHX16 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DHX16 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DHX16

Top Transcription factor binding sites by QIAGEN in the DHX16 gene promoter:
  • AML1a
  • ARP-1
  • c-Myc
  • E47
  • Hand1
  • Max
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • TBP

Genomic Locations for DHX16 Gene

Genomic Locations for DHX16 Gene
chr6:30,653,119-30,673,053
(GRCh38/hg38)
Size:
19,935 bases
Orientation:
Minus strand
chr6:30,620,896-30,640,830
(GRCh37/hg19)
Size:
19,935 bases
Orientation:
Minus strand

Genomic View for DHX16 Gene

Genes around DHX16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHX16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHX16 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

Proteins for DHX16 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for DHX16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60231-DHX16_HUMAN
    Recommended name:
    Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16
    Protein Accession:
    O60231
    Secondary Accessions:
    • O60322
    • Q5JP45
    • Q969X7
    • Q96QC1

    Protein attributes for DHX16 Gene

    Size:
    1041 amino acids
    Molecular mass:
    119264 Da
    Quaternary structure:
    • Component of pre-catalytic spliceosome complexes (PubMed:20423332, PubMed:20841358, PubMed:25296192, PubMed:29360106). Interacts with GPKOW.
    SequenceCaution:
    • Sequence=BAA25503.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DHX16 Gene

neXtProt entry for DHX16 Gene

Protein Expression for DHX16 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DHX16 Gene

O60231:
  • RKVVVATNIAE
  • FLTGQEE
  • WLLEVAPH
  • TDILFGL
  • YHELVLT
  • TQPRRVAA
  • TNIAETS
  • VGYSIRF
  • PDLASYSV
  • TDGMLLRE
  • DEAHERTL
  • TVPEIQR
  • GKTTQIPQ
  • PIYANLP
  • TGSGKTTQ
  • IRFEDCT

Post-translational modifications for DHX16 Gene

  • Ubiquitination at Lys716
  • Modification sites at PhosphoSitePlus

Other Protein References for DHX16 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DHX16 Gene

Gene Families for DHX16 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for DHX16 Gene

InterPro:
Blocks:
  • ATP-dependent helicase, DEAH-box
  • Helicase-associated region
ProtoNet:

Suggested Antigen Peptide Sequences for DHX16 Gene

GenScript: Design optimal peptide antigens:
  • DEAH-box protein 16 (DHX16_HUMAN)
  • cDNA, FLJ92560, highly similar to Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), mRNA (Q5SQH4_HUMAN)
  • DHX16 protein (Q6PKC8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60231

UniProtKB/Swiss-Prot:

DHX16_HUMAN :
  • Belongs to the DEAD box helicase family. DEAH subfamily. DDX16/PRP8 sub-subfamily.
Family:
  • Belongs to the DEAD box helicase family. DEAH subfamily. DDX16/PRP8 sub-subfamily.
genes like me logo Genes that share domains with DHX16: view

Function for DHX16 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for DHX16 Gene

UniProtKB/Swiss-Prot Function:
Required for pre-mRNA splicing as component of the spliceosome (PubMed:20423332, PubMed:20841358, PubMed:25296192, PubMed:29360106). Contributes to pre-mRNA splicing after spliceosome formation and prior to the first transesterification reaction.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;.

Enzyme Numbers (IUBMB) for DHX16 Gene

Phenotypes From GWAS Catalog for DHX16 Gene

Gene Ontology (GO) - Molecular Function for DHX16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA 21873635
GO:0003724 RNA helicase activity TAS,IEA --
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with DHX16: view
genes like me logo Genes that share phenotypes with DHX16: view

Animal Models for DHX16 Gene

MGI Knock Outs for DHX16:
  • Dhx16 Dhx16<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for DHX16 Gene

miRTarBase miRNAs that target DHX16

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHX16

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DHX16 Gene

Localization for DHX16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHX16 Gene

Nucleus. Nucleus, nucleoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DHX16 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DHX16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA 21873635
GO:0005634 nucleus TAS,IDA 20423332
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IBA,IDA 25296192
GO:0071005 U2-type precatalytic spliceosome IDA 29360106
genes like me logo Genes that share ontologies with DHX16: view

Pathways & Interactions for DHX16 Gene

genes like me logo Genes that share pathways with DHX16: view

Pathways by source for DHX16 Gene

1 BioSystems pathway for DHX16 Gene
1 KEGG pathway for DHX16 Gene

Gene Ontology (GO) - Biological Process for DHX16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing TAS 9547260
genes like me logo Genes that share ontologies with DHX16: view

No data available for SIGNOR curated interactions for DHX16 Gene

Drugs & Compounds for DHX16 Gene

Products:

  1. Drug

(3) Drugs for DHX16 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for DHX16 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with DHX16: view

Transcripts for DHX16 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DHX16 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHX16

Alternative Splicing Database (ASD) splice patterns (SP) for DHX16 Gene

No ASD Table

Relevant External Links for DHX16 Gene

GeneLoc Exon Structure for
DHX16

Expression for DHX16 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DHX16 Gene

mRNA expression in normal human tissues for DHX16 Gene
mRNA expression by GTEx for DHX16 GenemRNA expression by BioGPS for DHX16 Gene

Protein differential expression in normal tissues from HIPED for DHX16 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.1), Cerebrospinal fluid (9.7), and Plasma (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DHX16 Gene



Protein tissue co-expression partners for DHX16 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DHX16

SOURCE GeneReport for Unigene cluster for DHX16 Gene:

Hs.485060

Evidence on tissue expression from TISSUES for DHX16 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Blood(2.6)
  • Heart(2.4)
genes like me logo Genes that share expression patterns with DHX16: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DHX16 Gene

Orthologs for DHX16 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHX16 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DHX16 30 31
  • 99.46 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DHX16 31
  • 95 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DHX16 30 31
  • 91.71 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DHX16 30 31
  • 91.67 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Dhx16 30 17 31
  • 87.24 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dhx16 30
  • 87.02 (n)
Lizard
(Anolis carolinensis)
 Reptilia DHX16 31
  • 75 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.3751 30
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.18519 30
Zebrafish
(Danio rerio)
 Actinopterygii dhx16 30 31
  • 67.83 (n)
 OneToOne
wufa91b12 30
Fruit Fly
(Drosophila melanogaster)
 Insecta l(2)37Cb 30 31
  • 66.09 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009093 30
  • 63.02 (n)
Worm
(Caenorhabditis elegans)
 Secernentea mog-4 30 31
  • 59.88 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PRP43 31
  • 44 (a)
 OneToMany
PRP2 33
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons ESP3 30
  • 56.8 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.9177 30
Rice
(Oryza sativa)
 Liliopsida Os05g0389800 30
  • 61.73 (n)
Wheat
(Triticum aestivum)
 Liliopsida Ta.25604 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 60 (a)
 OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes cdc28 30
  • 56.14 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU08928 30
  • 54.67 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.3838 30
Species where no ortholog for DHX16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DHX16 Gene

ENSEMBL:
Gene Tree for DHX16 (if available)
TreeFam:
Gene Tree for DHX16 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DHX16: view image

Paralogs for DHX16 Gene

Paralogs for DHX16 Gene

(10) SIMAP similar genes for DHX16 Gene using alignment to 5 proteins:

  • DHX16_HUMAN
  • A2AB15_HUMAN
  • Q5SQH4_HUMAN
  • Q5SQH5_HUMAN
  • Q6PKC8_HUMAN
genes like me logo Genes that share paralogs with DHX16: view

Variants for DHX16 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DHX16 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
691931 Pathogenic/Likely Pathogenic: Intellectual disability; Seizures; Corpus callosum, agenesis of; Periventricular gray matter heterotopia; Chorioretinal lacunae; Neurodevelopmental delay; NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES 30,660,043(-) A/T MISSENSE_VARIANT
691932 Pathogenic/Likely Pathogenic: Enlarged kidney; Multiple renal cysts; Reduced renal corticomedullary differentiation; NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES 30,657,009(-) C/A MISSENSE_VARIANT
691933 Pathogenic/Likely Pathogenic: Intellectual disability; Neurodevelopmental delay; NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES 30,664,838(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
691934 Pathogenic/Likely Pathogenic: Intellectual disability; Seizures; Neurodevelopmental delay; NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES 30,657,079(-) G/A MISSENSE_VARIANT
711864 Benign: not provided 30,654,817(-) C/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DHX16 Gene

Structural Variations from Database of Genomic Variants (DGV) for DHX16 Gene

Variant ID Type Subtype PubMed ID
esv2670269 CNV deletion 23128226
esv2731791 CNV deletion 23290073
esv3411275 CNV duplication 20981092
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781
nsv823472 CNV gain 20364138
nsv830626 CNV loss 17160897

Variation tolerance for DHX16 Gene

Residual Variation Intolerance Score: 18.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.60; 65.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHX16 Gene

Human Gene Mutation Database (HGMD)
DHX16
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHX16

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHX16 Gene

Disorders for DHX16 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DHX16 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DHX16 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DHX16

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DHX16: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DHX16 Gene

Publications for DHX16 Gene

  1. Cloning and characterization of a human DEAH-box RNA helicase, a functional homolog of fission yeast Cdc28/Prp8. (PMID: 9547260) Imamura O … Furuichi Y (Nucleic acids research 1998) 2 3 4 23
  2. Contribution of DEAH-box protein DHX16 in human pre-mRNA splicing. (PMID: 20423332) Gencheva M … Lin RJ (The Biochemical journal 2010) 2 3 4
  3. Structure of the human activated spliceosome in three conformational states. (PMID: 29360106) Zhang X … Shi Y (Cell research 2018) 3 4
  4. GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo. (PMID: 25296192) Zang S … Lin RJ (Bioscience reports 2014) 3 4
  5. Nuclear retention of unspliced pre-mRNAs by mutant DHX16/hPRP2, a spliceosomal DEAH-box protein. (PMID: 20841358) Gencheva M … Lin RJ (The Journal of biological chemistry 2010) 3 4

ExternalLinks

View latest publications for DHX16 gene in Mastermind

Products for DHX16 Gene